MUTYH-germline%20mutations%20and%20manifestations

1
MUTYH-germline mutations and manifestations
Human Chr. 1
1
2
10
11
16
1p34.3-p32.1
a. Biallelic mutation
Manifestation
Age at
Number of
Family
Family No.
CRC
of other
Biallelic MUTYH mutations
Diagnosis
adenomas
History
organs
()
?
( ) (sib)
c. 833CgtT
c. 833CgtT
( - )
43
410
(well, ss)
p. A278V
p. A278V
()
( ) (sib)
( - )
c. 833CgtT
c. 833CgtT
?
56
420
(mod. m)
p. A278V
p. A278V
c. 848GgtA
c. 848GgtA
?
( - )
( - )
47
200
p. G283E
p. G283E
( ) (sib)
c. 55CgtT
c. 833CgtT
?
( - )
39
100
Ovarian cyst
p. R19X
p. A278V
b. Monoallelic mutation
Manifestation
Monoallelic
Mutation of
Age at
Number of
Family
Family No.
CRC
of other
MUTYH
the other
Diagnosis
adenomas
History
organs
mutation
MUTYH allele
?
c. 53CgtT
( - )
( - )
( - )
46
200
p. P18L
IVS10 -2,
?
Gastric
( - )
( - )
1470
44
a/g
cancer
c nucleotide number of the CDS of the p amino
acid number of the MYH protein